Search Results - "genetic testing"

2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report by Sebastian Giraldo-Ocampo, Harry Pachajoa

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The importance of SMA screening tests in newborns - review by Barbara Rusinowska

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A new disorder to keep in mind: VEXAS syndrome by Egídio Freitas, Miguel Nogueira, Ana M. Lé, André Coelho, Inês Lobo

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Celiac disease - a common autoimmune disease with significantly delayed diagnosis by Magdalena Choina, Kinga Pożarowska, Gracjan Rudziński, Bożena Cukrowska, Emilia Majsiak

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Pseudo-Bartter Syndrome in Patients with Cystic Fibrosis and Clinical Features by Mehmet Mustafa Özaslan, Handan Duman Şenol, Meral Barlık, Fevziye Çoksüer, Bahar Dindar, Esen Demir, Figen Gülen

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Genetic Variability of HUPRA Syndrome-A Case Report by Edita Petrosyan, Maria Molchanova, Berta Kushnir, Patritsia Povilaitite, Polina Tsygankova, Ekaterina Zakharova, Maria Proskura

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Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report by Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti, Alberto Berardi

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Inborn Errors of Immunity: how to diagnose them? by Anete Sevciovic Grumach, Ekaterini Simões Goudouris

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Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia by Kin Fon Leong, Reiko Sato, Glenda Guek Khim Oh, Uttam Surana, Zacharias Aloysius Dwi Pramono

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Compound Heterozygous Missense Variants in <i>RPL3L</i> Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review by Bibhuti B. Das, Viswanath Gajula, Sandeep Arya, Mary B. Taylor

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Analysis of trio test in neurodevelopmental disorders by Se Hee Kim, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Seung-Tae Lee, Jong Rak Choi, Saeam Shin, Hoon-Chul Kang

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Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1 by Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang

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Genetic Evaluation of Children with Global Developmental Delay-Current Status of Network Systems in Taiwan by Yong-Lin Foo, Julie Chi Chow, Ming-Chi Lai, Wen-Hui Tsai, Li-Chen Tung, Mei-Chin Kuo, Shio-Jean Lin

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DIAGNOSIS DIFFICULTIES IN INFANT'S HYPOGLYCEMIA by Alina Grama, Oana Marginean, Iulian Velea, Corina Paul, Mihaela Chincesan, Lorena Elena Melit

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Nonel approaches in the field of gastric cancer surgical treatment by S. Kirkilevsky, V. Polyasny, A. Mashukov, L. Kovalevskaya

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Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review by Gizem Kok Kilic, Erhan Pariltay, Emin Karaca, Burak Durmaz, Huseyin Ekici, Metehan Imamoglu, Firat Okmen, Haluk Akin, Ozgur Cogulu

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A Narrative on Inflammatory Biomarkers in Endodontics by Manoj Chandak, Namrata Jidewar, Abhilasha Dass Mishra, Rakhi Chandak, Pavan Bajaj, Shweta Sedani, Payal Chaudhari

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Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings by Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu

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Impact of Pharmacogenomics in Clinical Practice by Nicola Principi, Kyriakoula Petropulacos, Susanna Esposito

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Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report by Zhen Zhang, Xin Chen, Rui Zhou, Huaixiang Yin, Jiali Xu

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